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Modern Medical Genetics and Genomics
The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases.
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Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987 [PDF]
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started ...
Jaehwan HYUN
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Medical Genetics for the MRCOG and Beyond [2nd ed.]
This second edition of Medical Genetics for the MRCOG and Beyond has been comprehensively updated to reflect current clinical practice and developments since publication of the original edition.
Tobias, Edward S., Connor, J. Michael
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ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld +5 more
wiley +1 more source
ASHG Position Statement : The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results [PDF]
© 2019 American Society of Human Genetics. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 6 month embargo from ...
Rehm, Heidi L. +26 more
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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region.
João M. de Pina-Neto +5 more
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Genetics in medical practice [PDF]
Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire +2 more sources
ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo +9 more
wiley +1 more source
Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine +17 more
wiley +1 more source
The rapid evolution of genomic knowledge has made reanalysis and reinterpretation of clinical genetic testing results an ethical imperative to ensure optimal patient care. However, significant discrepancies persist between policies, laboratory practices,
Zachary T. Sentell +3 more
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